What is it about?
In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1Gene
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Why is it important?
Our concordant in silico analysis by SIFT, PolyPhen-2, PANTHER-cSNP, and SNPeffect tools, identified the potential nsSNPs (S143P, G258V, and Y414D variants) from 18 nsSNPs of GalNAc-T1. Additionally, 2 regulatory SNPs (rs72964406 and #x26; rs34304568) were also identified in GalNAc-T1 by using FastSNP tool.
Perspectives
Using multiple computational approaches, we have systematically classified the functional mutations in regulatory and coding regions that can modify expression and function of GalNAc-T1 enzyme. These genetic variants can further assist in better understanding the wide range of disease susceptibility associated with the mucin-based cell signalling and pathogenic binding, and may help to develop novel therapeutic elements for associated diseases.
Dr Muhammad R. Manwar
BIG-CAS
Read the Original
This page is a summary of: First ComprehensiveIn SilicoAnalysis of the Functional and Structural Consequences of SNPs in HumanGalNAc-T1Gene, Computational and Mathematical Methods in Medicine, January 2014, Hindawi Publishing Corporation,
DOI: 10.1155/2014/904052.
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